Parkinson's Clustering in Families of Non-Neuronopathic N370S GBA Mutation Carriers Indicates the Presence of Genetic Modifiers.
作者： Ari Zimran , Ari Zimran , Michal Becker-Cohen , David Arkadir , David Arkadir
DOI: 10.3233/JPD-202422
关键词:
摘要: Low penetrance of Parkinson's disease (PD) associated with GBA pathogenic variants indicates the presence modifiers genes. Clusters PD cases in certain families would serve as a strong evidence for clinical relevance such modifiers. We studied eight family trees non-Parkinsonian, GBA-N370S homozygote, Gaucher probands, multiple PD. Differences risk different were balanced by variant homozygosity. In these families, all stemmed from only one proband's parents. This observation provides direct epidemiological genetic determining carriers.
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